PSP‐Like Phenotype in Genetically Confirmed SCA12
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13590
Abstract: Spinocerebellar ataxia type 12 (SCA12) is an autosomal domi-nant cerebellar ataxia caused by CAG repeat expansions in the protein phosphatase 2 regulatory subunit B beta (PPP2R2B) gene in chromosome 5q. 1 The prevalence of SCA12… read more here.
Keywords: psp like; sca12; confirmed sca12; genetically confirmed ... See more keywords
The first case of genetically confirmed sparganosis (Spirometra erinaceieuropaei) in European reptiles
Sign Up to like & getrecommendations! Published in 2018 at "Parasitology Research"
DOI: 10.1007/s00436-018-6079-0
Abstract: Sparganosis is a zoonosis caused by the spargana (larvae) of Spirometra sp. (Diphyllobothriidae). Reptiles are particularly important vectors for the transmission of this parasite in Asia; however, their role in sparganosis spread in European wildlife… read more here.
Keywords: spirometra; sparganosis; case genetically; spirometra erinaceieuropaei ... See more keywords
Functional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2144903
Abstract: ABSTRACT Background Whether by indirect oxidative stress or direct genetic defect, various genetic retinal dystrophies involve mitochondrial stress. Mitochondrial flavoprotein fluorescence (FPF), reported as either average signal intensity or variability (heterogeneity), may serve as a… read more here.
Keywords: confirmed retinal; genetically confirmed; flavoprotein fluorescence; retinal dystrophies ... See more keywords
Dermatologic findings in individuals with genetically confirmed Proteus syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric Dermatology"
DOI: 10.1111/pde.14624
Abstract: Proteus syndrome, caused by a mosaic activating AKT1 variant, typically presents in toddlers with progressive, asymmetric overgrowth of the skin and bones. We aimed to define the spectrum of dermatologic disease in individuals with genetically… read more here.
Keywords: dermatologic findings; confirmed proteus; proteus syndrome; individuals genetically ... See more keywords
Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia
Sign Up to like & getrecommendations! Published in 2022 at "Thorax"
DOI: 10.1136/thoraxjnl-2021-218332
Abstract: Pulmonary arteriovenous malformations (PAVMs) result in preventable complications demanding specialty care. Underlying hereditary haemorrhagic telangiectasia (HHT) can be identified by genetic testing, if the diagnosis is considered. Retrospectively reviewing 152 unrelated adults with genetically confirmed… read more here.
Keywords: hereditary haemorrhagic; genetically confirmed; arteriovenous malformations; pulmonary arteriovenous ... See more keywords
A Case of a Young Girl Suffering from Genetically Confirmed Wilson Disease with Orthotopic Liver Transplantation
Sign Up to like & getrecommendations! Published in 2023 at "Internal Medicine"
DOI: 10.2478/inmed-2023-0241
Abstract: Abstract A rare genetical autosomal recessive disorder called Wilson disease (WD) is characterized by excess copper being deposited in numerous major organs, mainly the liver and brain causing hepatic, neurological and mental symptoms. WD is… read more here.
Keywords: genetically confirmed; disease; case young; wilson disease ... See more keywords
Genetically confirmed chronic granulomatous disease in a Kenyan child: case report
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2023.1172848
Abstract: Introduction We report the first case of genetically confirmed chronic granulomatous disease (CGD) in a Kenyan child. Clinical findings A 7-month-old male infant, the only child of non-consanguineous parents, presented with cough, fever, fast breathing,… read more here.
Keywords: chronic granulomatous; kenyan child; genetically confirmed; confirmed chronic ... See more keywords
Milder outcomes of SARS-CoV-2 genetically confirmed reinfections compared to primary infections with the delta variant: A retrospective case-control study
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.962653
Abstract: Background SARS-CoV-2 infection does not confer long immunity. However, studies suggest that prior infection is associated with lower risk of reinfection and milder outcomes of recurrent infections. The aims of this retrospective observational case-control study… read more here.
Keywords: infection; control; genetically confirmed; reinfection ... See more keywords
A Case of Genetically Confirmed Chorea-Acanthocytosis: Brain [18F]FDG-PET and [18F]FP-CIT-PET Findings
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_417_19
Abstract: Annals of Indian Academy of Neurology ¦ Volume 23 ¦ Issue 3 ¦ May-June 2020 369 emergence of this kind of tremor is the involvement of dentate or inferior olivary nucleus as shown in an… read more here.
Keywords: neurology; pet; case genetically; tremor ... See more keywords